Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Jul;191(7):1973-1977.
doi: 10.1002/ajmg.a.63223. Epub 2023 Apr 27.

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

Anna Meroni  1   2 , Silvia Kalantari  3 , Alessia Arossa  1   2 , Arsenio Spinillo  1   2 , Chiara Melito  1   2 , Annachiara Licia Scatigno  1   2 , Stefania Cesari  4 , Elisa Giorgio  5   6 , Milena Furione  7 , Tessa Homfray  8 , Fabio Sirchia  5   9
Affiliations
Case Reports

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage

Anna Meroni et al. Am J Med Genet A. 2023 Jul.

Abstract

Fetal intracranial hemorrhage (ICH) may result from a wide array of causes, either associated with maternal or fetal risk factors. In the last decade, monogenic causes of susceptibility to fetal ICH have been described, in particular in association with COL4A1 and COL4A2 genes. A peculiar form of ICH is acute necrotizing encephalitis (ANE), which is characterized by a rapid-onset severe encephalopathy following an abnormal inflammatory response to an otherwise banal infection. It usually affects healthy children and it is thought to be multifactorial, with a genetic predisposition. RANBP2 gene has been extensively associated with ANE susceptibility. We hereby present a unique case of a 42-year-old secundigravida with intrauterine fetal demise at 35 weeks of gestation. Trio-based whole-exome sequencing performed on both parents and fetal DNA showed a de novo likely pathogenic variant in the RANBP2 gene on 2q13. At the fetal autopsy, subtentorial hematoma and cerebral intraparenchymal hemorrhage were present. We speculate that this might be a new phenotypic presentation of RANBP2-associated disease. However, more similar fetal cases need to be reported in order to reinforce this hypothesis.

Keywords: RANBP2; acute necrotizing encephalopathy; fetal intracranial hemorrhage; intrauterine demise; prenatal diagnosis.

PubMed Disclaimer

References

REFERENCES

    1. Alawadhi, A., Saint-Martin, C., Bhanji, F., Srour, M., Atkinson, J., & Sébire, G. (2018). Acute hemorrhagic encephalitis responding to combined decompressive craniectomy, intravenous immunoglobulin, and corticosteroid therapies: Association with novel variant. Frontiers in Neurology, 9(March), 130.
    1. Bashiri, F. A., Al Johani, S., Hamad, M. H., Kentab, A. Y., Alwadei, A. H., Hundallah, K., Hasan, H. H., Alshuaibi, W., Jad, L., Alrifai, M. T., Hudairi, A., Al Sheikh, R., Alenizi, A.'a., Alharthi, N. A., Abdelmagid, T. A., Ba-Armah, D., Salih, M. A., & Tabarki, B. (2020). Acute necrotizing encephalopathy of childhood: A multicenter experience in Saudi Arabia. Frontiers in Pediatrics, 8(October), 526.
    1. Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018). Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genomic Medicine, 3(July), 16.
    1. Donders, G. G. G., Ruban, K., Bellen, G., & Petricevic, L. (2017). Mycoplasma/ureaplasma infection in pregnancy: To screen or not to screen. Journal of Perinatal Medicine, 45(5), 505-515.
    1. Ghi, T., Simonazzi, G., Perolo, A., Savelli, L., Sandri, F., Bernardi, B., Santini, D., Bovicelli, L., & Pilu, G. (2003). Outcome of antenatally diagnosed intracranial hemorrhage: Case series and review of the literature. Ultrasound in Obstetrics & Gynecology, 22(2), 121-130.

Publication types

LinkOut - more resources